Details for ALOX15:c.82G>A, p.Gly28Ser

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
45448654641570
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ALOX15
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001140.3
CDNA CHANGE c.82G>A
PROTEIN CHANGE p.Gly28Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00021390.08.693e-050.00.00.0003710.00035070.00049340.0

ESP
AAEA
0.00.0001165
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.139184Polymorphism
DBSNP ID rs147708465
1 combination linked to ALOX15:c.82G>A, p.Gly28Ser OLI329
1 disease linked to ALOX15:c.82G>A, p.Gly28Ser Amyotrophic lateral sclerosis

Found any issues with the data on this page? Report this entry.